Aleksandra Siekierska

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Arvid Suls, Johanna A. Jaehn, Angéla Kecskés et al. · The American Journal of Human Genetics · 2013 · 221 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Julian Schubert, Aleksandra Siekierska, Mélanie Langlois et al. · Nature Genetics · 2014 · 197 citations

Life Sciences, Genetics, Neuroscience +13

G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling

Mirja Tamara Prentzell, Ulrike Rehbein, Marti Cadena Sandoval et al. · Cell · 2021 · 150 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Gain-of-function <i>FHF1</i> mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Aleksandra Siekierska, Mala Isrie, Yue Liu et al. · Neurology · 2016 · 82 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Structural hot spots for the solubility of globular proteins

Ashok Ganesan, Aleksandra Siekierska, Jacinte Beerten et al. · Nature Communications · 2016 · 74 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15